ClinVar Miner

Submissions for variant NM_001244008.2(KIF1A):c.4217G>A (p.Arg1406His)

gnomAD frequency: 0.00001  dbSNP: rs755301795
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000503848 SCV000595409 uncertain significance not specified 2015-09-13 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000823472 SCV000964332 likely benign Hereditary spastic paraplegia 30; Neuropathy, hereditary sensory, type 2C; Intellectual disability, autosomal dominant 9 2024-11-13 criteria provided, single submitter clinical testing
Baylor Genetics RCV001334234 SCV001527026 uncertain significance Intellectual disability, autosomal dominant 9 2018-02-01 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
Ambry Genetics RCV002323866 SCV002626273 uncertain significance Inborn genetic diseases 2019-05-16 criteria provided, single submitter clinical testing The p.R1305H variant (also known as c.3914G>A), located in coding exon 37 of the KIF1A gene, results from a G to A substitution at nucleotide position 3914. The arginine at codon 1305 is replaced by histidine, an amino acid with highly similar properties. This amino acid position is highly conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
PreventionGenetics, part of Exact Sciences RCV004737574 SCV005364708 uncertain significance KIF1A-related disorder 2024-09-17 no assertion criteria provided clinical testing The KIF1A c.4217G>A variant is predicted to result in the amino acid substitution p.Arg1406His. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.0037% of alleles in individuals of European (non-Finnish) descent in gnomAD. At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.

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